Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS. 24336230

2014
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids. 23816250

2013
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function. 24145216

2013
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene. 23649896

2013
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R. 23411710

2013
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR CSF1R mutations link POLD and HDLS as a single disease entity. 23408870

2013
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Update of the original HDLS kindred: divergent clinical courses. 22098561

2012
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR MRI characteristics and scoring in HDLS due to CSF1R gene mutations. 22843259

2012
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. 22197934

2011
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity? 19487654

2009
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids. 18794495

2008
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Biology and action of colony--stimulating factor-1. 8981357

1997
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Hereditary diffuse leucoencephalopathy with spheroids. 6595937

1984